Varaico: Literature-Extracted Genetic Variants

CC2D1B

1p32.3 (UCSC)GTEx

61 papers

Pfam Domains

CC2D1A-B_DM14aa 170–225UCSCCoiled-coil and C2 domain-containing protein 1, DM14 domain

CC2D1A-B_DM14aa 283–338UCSCCoiled-coil and C2 domain-containing protein 1, DM14 domain

CC2D1A-B_DM14aa 388–443UCSCCoiled-coil and C2 domain-containing protein 1, DM14 domain

CC2D1A-B_DM14aa 540–595UCSCCoiled-coil and C2 domain-containing protein 1, DM14 domain

C2aa 699–817UCSCC2 domain

Gene Aliases

HGNC Name

coiled-coil and C2 domain containing 1B

HGNC Alias Symbols

KIAA1836; Freud-2; Lgd1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001330585.2

p.R288_Y290del3

c.862_869del9

Surrounding Variants

1 paper

NM_001330585.2

p.P277S

c.829C>T

1 paper

NM_001330585.2

p.D276N

c.826G>A

1 paper

NM_001330585.2

p.P271P

c.813C>T

1 paper

NM_001330585.2

p.Q270H

c.810G>T

1 paper

NM_001330585.2

p.Q270H

c.810G>C

1 paper

NM_001330585.2

p.P335_P336del2

c.1003_1007del6

1 paper

NM_001330585.2

p.S241C

c.721A>T

1 paper

NM_001330585.2

p.N239insFs

c.715dupA

1 paper

NM_001330585.2

p.L227insFs

c.680dupT

1 paper

NM_001330585.2

p.A226T

c.676G>A

1 paper

NM_001330585.2

p.D219E

c.657T>G

1 paper

NM_001330585.2

p.D219E

c.657T>A